The association between NEFL genetic polymorphisms among multiple sclerosis patients

Multiple Sclerosis (MS) is a chronic and progressive neurodegenerative disease characterized by the demyelination of axons within the central nervous system (CNS), leading to a spectrum of neurological impairments. Predominantly affecting young adults, MS poses a significant burden on both patients and healthcare systems worldwide. The CNS, comprising the brain, cerebellum, brain stem, and spinal cord, serves as the epicenter of MS pathology, with multifocal lesions manifesting throughout these regions. The term "multiple" in MS reflects its propensity to affect various areas of the CNS, while "sclerosis" denotes the characteristic hardening of tissues in areas of damage. Understanding the genetic underpinnings of MS is crucial for elucidating its etiology and identifying potential therapeutic targets. In this context, this study aimed to investigate the relationship between genetic polymorphisms of neurofilament light (NEFL) and MS. Analysis of Apa I and Fok I polymorphisms yielded nonsignificant results, contrasting with prior findings. However, a significant difference was observed in Taq I polymorphism (p:0.025) between MS patients and control groups, highlighting a potential genetic susceptibility marker for MS development. This study serves as a preliminary exploration, paving the way for future investigations encompassing larger cohorts and additional parameters. Incorporating variables such as serum calcitriol levels, disease subtypes differentiation, bone densitometry, and body mass index correlations will enhance our understanding of the complex interplay between genetic predisposition, environmental factors, and MS pathogenesis. By expanding our knowledge base, these endeavors will facilitate the development of more targeted and effective therapeutic strategies for individuals afflicted by this debilitating neurological condition.